Factors associated with Dandy-Walker Malformation (DWM), a rare birth defect of the brain

A pregnant woman holding her belly

In a new study published in the American Journal of Medical Genetics, Part A, researchers looked at specific factors that might increase the risk for having a baby with Dandy-Walker malformation (DWM), a rare birth defect that affects the back part of the brain. Researchers looked at many different environmental and lifestyle factors (such as the mother’s and father’s race, mother’s education and age, and certain exposures before and during pregnancy, such as smoking, alcohol use, and infections) and found that most of them were not related to having a baby with DWM. The researchers did identify a few factors that were more common among babies with DWM than among babies without DWM, including black race mothers, twinning, or a history of infertility treatment. The lack of environmental factors suggests that genetic factors might play an important role in DWM. More study of these factors might provide additional clues to the causes of DWM.

You can read an abstract of the article here.external icon

Main Findings

  • Researchers found that the following  factors were more common among babies with DWM:
    • Mothers that are of black race
    • Twinning
    • History of infertility treatment
  • Future studies should further examine the roles of race, twinning, infertility treatment, and genetics in the development of DWM.

About this Study

  • Researchers used data on babies that were due to be born between October 1, 1997 and December 31, 2009 from the National Birth Defects Prevention Study (NBDPS).  The NBDPS is a population-based, multi-site study, which aims to understand factors related to the risk for major birth defects. Population-based means that researchers look at all babies with birth defects who live in a defined study area, which is important to get a complete picture of what is happening within this known population.
  • For this study, researchers looked at factors from one month before pregnancy through the third month of pregnancy.
  • Birth defects were identified through birth defects tracking systems in Arkansas, California, Georgia, Iowa, Massachusetts, New Jersey, New York, North Carolina, Texas, and Utah.

About Birth Defects

Birth defects are common, costly, and critical conditions that affect 1 in every 33 babies born in the United States each year. Birth defects are structural changes present at birth that can affect almost any part or parts of the body (such as the heart, brain, face, arms, and legs). They may affect how the body looks, works, or both.

Our Work

CDC’s National Center on Birth Defects and Developmental Disabilities (NCBDDD) saves babies by preventing birth defects. NCBDDD identifies causes of birth defects, finds opportunities to prevent them, and improves the health of those living with birth defects. Learn how NCBDDD makes a difference by visiting https://www.cdc.gov/ncbddd/aboutus/saving-babies/index.html.

More Information

For more information about birth defects, please visit www.cdc.gov/birthdefects.

Key Findings Reference

Reeder MR, Botto LD, Keppler-Noreuil KM, Carey JC, Byrne JLB, Feldkamp ML. Risk Factors for Dandy-Walker Malformation: a Population-based Assessment. Am J Med Genet A. 2015 May 1. [Epub ahead of print].